Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities

Keyphrases

• Associated Disorders 100%
• Structural Brain Abnormalities 100%
• Developmental Delay 100%
• PTPN23 100%
• Phenotypic Spectrum 28%
• Associated Diseases 14%
• Seizure 14%
• Intellectual Disability 14%
• Brain Atrophy 14%
• RNA Splicing 14%
• Autosomal Recessive 14%
• Deleterious Variants 14%
• Molecular Spectra 14%
• Compound Heterozygous mutation 14%
• System Function 14%
• Spasticity 14%
• Loss Function 14%
• Protein Tyrosine Phosphatase 1B (PTP1B) 14%
• Human Phenotypes 14%
• Consanguineous Population 14%
• Shared Features 14%
• Reduced Function 14%
• Human Visual System 14%
• Endosomal Sorting Complex Required for Transport (ESCRT) 14%
• Transport Pathway 14%
• Microcephaly 14%
• Genetic Matching 14%
• Language Disorders 14%
• Brain Abnormalities 14%
• Homozygosis 14%
• Optic Atrophy 14%
• Nervous System Development 14%
• Embryonic Lethality 14%
• Ventriculomegaly 14%
• Human Nervous System 14%
• Ciliogenesis 14%
• Visual System Development 14%
• Variation Spectra 14%

Biochemistry, Genetics and Molecular Biology

• Allele 100%
• RNA Splicing 100%
• Autosomal Recessive Inheritance 100%
• Homozygosity 100%
• Intellectual Disability 100%
• Protein Tyrosine Phosphatase 100%
• Ciliogenesis 100%

Neuroscience

• Brain Abnormalities 100%
• Nervous System 50%
• Protein Tyrosine Phosphatase 50%
• ESCRT Protein 50%
• Microcephaly 50%
• RNA Splicing 50%
• Language Disorders 50%
• Intellectual and Developmental Disabilities 50%